Impact of Neurofibromatosis 1 on Quality of Life
Anophthalmia-Esophageal Atresia Syndrome Caused by an SOX2 Gene Deletion in Monozygotic Twin Brothers With Markedly Discordant Phenotypes
SALL1 Mutations in Sporadic Townes–Brocks Syndrome Are of Predominantly Paternal Origin Without Obvious Paternal Age Effect
Mutation Analysis of the FRAS1 Gene Demonstrates New Mutations in a Propositus With Fraser Syndrome
Risk of Limb Deficiency Defects Associated With NAT1, NAT2, GSTT1, GSTM1 , and NOS3 Genetic Variants, Maternal Smoking, and Vitamin Supplement Intake
A Previously Unreported Mutation in a Currarino Syndrome Kindred
Array Comparative Genomic Hybridization Analysis in First-Trimester Spontaneous Abortions With ‘Normal’ Karyotypes
Prevalence of Angelman Syndrome and Prader–Willi Syndrome in Estonian Children
Clinical Phenotype and Molecular Characterization of 6q Terminal Deletion Syndrome
High Cognitive Functioning and Behavioral Phenotype in Pallister-Killian Syndrome
Epiphyseal Dysplasia and Other Skeletal Anomalies in a Patient With the 6p25 Microdeletion Syndrome
Atrioventricular Block and Wiry Hair in Teebi Hypertelorism Syndrome
Bannayan–Riley–Ruvalcaba Syndrome With Reactive Nodular Lymphoid Hyperplasia and Autism and a PTEN Mutation
Additional Evidence that PTPN11 Mutations Play Only a Minor Role in the Pathogenesis of Non-Syndromic Atrioventricular Canal Defect
Xx Male With Sex Reversal and A De Novo 11;22 Translocation
A Non-Obese Boy With Prader-Willi Syndrome Shows Cardiopulmonary Impairment Due to Severe Kyphoscoliosis
Tetralogy of Fallot With Absent Pulmonary Valve in a De Novo Derivative Chromosome 9 With Duplication of 9p13 → 9pter and Deletion of 9q34.3
Dwarfism in the Ancient Mediterranean World
Consanguineous Marriage and Congenital Heart Defects